ClinVar Miner

List of variants reported as likely pathogenic for Histiocytic medullary reticulosis

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Total variants: 5
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NM_000448.2(RAG1):c.2904C>A (p.Asn968Lys) rs193922463
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu) rs193922572
NM_001033855.3(DCLRE1C):c.103C>G (p.His35Asp) rs121908159
NM_001033855.3(DCLRE1C):c.350C>T (p.Pro117Leu) rs757316102
NM_002185.5(IL7R):c.265C>T (p.Gln89Ter)

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